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The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.
Gao, Xiaojie; Li, Hua; Zhao, Songhua; Li, Xiabin; Zhao, Jiao; Long, Yang; Zhang, Jun; Liao, Yongmei; Li, Shengbiao; Guo, Kai; Yi, Jingyan; Chen, Shaokun; Ma, Mingyi.
Afiliación
  • Gao X; School of Basic Medical Sciences, Southwest Medical University, Luzhou, China.
  • Li H; Department of endocrinology, Affiliated hospital of Southwest Medical University, Luzhou, China.
  • Zhao S; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
  • Li X; Department of Pathology, Affiliated hospital of Southwest Medical University, Luzhou, China.
  • Zhao J; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
  • Long Y; Experiment Medicine Center of the Affiliated Hospital of Southwest Medical University, Southwest Medical University, Luzhou, China.
  • Zhang J; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
  • Liao Y; Department of Dermatology, Affiliated hospital of Southwest Medical University, Luzhou, China.
  • Li S; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
  • Guo K; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
  • Yi J; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China.
  • Chen S; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China. Electronic address: chenshaokun@swmu.edu.cn.
  • Ma M; Department of Medical Cell Biology and Genetics, Southwest Medical University, Luzhou, China. Electronic address: mingyimasb@swmu.edu.cn.
J Dermatol Sci ; 106(1): 37-44, 2022 Apr.
Article en En | MEDLINE | ID: mdl-35346558
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Proteínas de la Membrana Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Dermatol Sci Asunto de la revista: DERMATOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: China
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Mutación Missense / Proteínas de la Membrana Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: J Dermatol Sci Asunto de la revista: DERMATOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: China